{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T20:21:31Z","timestamp":1778617291288,"version":"3.51.4"},"reference-count":79,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T00:00:00Z","timestamp":1675728000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100004785","name":"NordForsk","doi-asserted-by":"crossref","award":["90580"],"award-info":[{"award-number":["90580"]}],"id":[{"id":"10.13039\/501100004785","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012774","name":"Innovation Fund Denmark","doi-asserted-by":"crossref","award":["8114-00033B"],"award-info":[{"award-number":["8114-00033B"]}],"id":[{"id":"10.13039\/100012774","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Technology Development Fund, Iceland","award":["90580"],"award-info":[{"award-number":["90580"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>Syncope is a common and clinically challenging condition. In this study, the genetics of syncope were investigated to seek knowledge about its pathophysiology and prognostic implications.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>This genome-wide association meta-analysis included 56 071 syncope cases and 890 790 controls from deCODE genetics (Iceland), UK Biobank (United Kingdom), and Copenhagen Hospital Biobank Cardiovascular Study\/Danish Blood Donor Study (Denmark), with a follow-up assessment of variants in 22 412 cases and 286 003 controls from Intermountain (Utah, USA) and FinnGen (Finland). The study yielded 18 independent syncope variants, 17 of which were novel. One of the variants, p.Ser140Thr in PTPRN2, affected syncope only when maternally inherited. Another variant associated with a vasovagal reaction during blood donation and five others with heart rate and\/or blood pressure regulation, with variable directions of effects. None of the 18 associations could be attributed to cardiovascular or other disorders. Annotation with regard to regulatory elements indicated that the syncope variants were preferentially located in neural-specific regulatory regions. Mendelian randomization analysis supported a causal effect of coronary artery disease on syncope. A polygenic score (PGS) for syncope captured genetic correlation with cardiovascular disorders, diabetes, depression, and shortened lifespan. However, a score based solely on the 18 syncope variants performed similarly to the PGS in detecting syncope risk but did not associate with other disorders.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The results demonstrate that syncope has a distinct genetic architecture that implicates neural regulatory processes and a complex relationship with heart rate and blood pressure regulation. A shared genetic background with poor cardiovascular health was observed, supporting the importance of a thorough assessment of individuals presenting with syncope.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/eurheartj\/ehad016","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T10:59:25Z","timestamp":1675767565000},"page":"1070-1080","source":"Crossref","is-referenced-by-count":17,"title":["Genetic variants associated with syncope implicate neural and autonomic processes"],"prefix":"10.1093","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0909-5942","authenticated-orcid":false,"given":"Hildur M","family":"Aegisdottir","sequence":"first","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"},{"name":"Faculty of Medicine, University of Iceland , Vatnsmyrarvegur 16, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7475-0398","authenticated-orcid":false,"given":"Rosa B","family":"Thorolfsdottir","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2429-9468","authenticated-orcid":false,"given":"Gardar","family":"Sveinbjornsson","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9663-3018","authenticated-orcid":false,"given":"Olafur A","family":"Stefansson","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjarni","family":"Gunnarsson","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8223-8957","authenticated-orcid":false,"given":"Vinicius","family":"Tragante","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4623-9087","authenticated-orcid":false,"given":"Gudmar","family":"Thorleifsson","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilja","family":"Stefansdottir","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5149-7040","authenticated-orcid":false,"given":"Thorgeir E","family":"Thorgeirsson","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8090-7988","authenticated-orcid":false,"given":"Egil","family":"Ferkingstad","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7123-6123","authenticated-orcid":false,"given":"Patrick","family":"Sulem","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5622-7197","authenticated-orcid":false,"given":"Gudmundur","family":"Norddahl","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6723-0757","authenticated-orcid":false,"given":"Gudrun","family":"Rutsdottir","sequence":"additional","affiliation":[{"name":"deCODE genetics\/Amgen, Inc. , Sturlugata 8, Reykjavik 101 , Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2489-2499","authenticated-orcid":false,"given":"Karina","family":"Banasik","sequence":"additional","affiliation":[{"name":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen , Blegdamsvej 3A, Copenhagen 2200 , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6855-1496","authenticated-orcid":false,"given":"Alex Hoerby","family":"Christensen","sequence":"additional","affiliation":[{"name":"The Unit for Inherited Cardiac Diseases, Department of Cardiology, The Heart Centre, Copenhagen University Hospital - 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